A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976329



Internal ID18611535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35261993..35265164hg38UCSC Ensembl
Innerchr14:35731199..35734370hg19UCSC Ensembl
Innerchr14:34800950..34804121hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg383172
hg193172
hg183172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1983903, nssv1983908, nssv1983902, nssv1983910, nssv1983909, nssv1983906, nssv1983907, nssv1983901, nssv1983905, nssv1983904
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKIAA0391
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976329
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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